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Primary autosomal recessive microcephaly 2

Overview

Type of Disease:Genetic, autosomal recessiveCongenital onset

Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology ({4:Hofman, 1984}). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by {9:Yu et al., 2010}).
For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 ({251200}). Source: Online Mendelian Inheritance in Man

This 100-page handbook helps answer many questions for children with Progeria about how to optimize quality of life through daily care and medical treatment. Contains basic health facts,daily care recommendations and extensive treatment guidelines.